{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:16Z","timestamp":1791293116547,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,21]],"date-time":"2015-09-21T00:00:00Z","timestamp":1442793600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Friedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late\u2010onset Friedreich's ataxia and very\u2010late\u2010onset Friedreich's ataxia, occurring after 25 and 40 years, respectively. We describe the clinical, functional, and molecular findings from a large series of late\u2010onset Friedreich's ataxia and very\u2010late\u2010onset Friedreich's ataxia and compare them with typical\u2010onset Friedreich's ataxia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Phenotypic and genotypic comparison of 44 late\u2010onset Friedreich's ataxia, 30 very late\u2010onset Friedreich's ataxia, and 180 typical Friedreich's ataxia was undertaken.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Delayed\u2010onset Friedreich's ataxia (late\u2010onset Friedreich's ataxia and very\u2010late\u2010onset Friedreich's ataxia) had less frequently dysarthria, abolished tendon reflexes, extensor plantar reflexes, weakness, amyotrophy, ganglionopathy, cerebellar atrophy, scoliosis, and cardiomyopathy than typical\u2010onset Friedreich's ataxia, along with less severe functional disability and shorter GAA expansion on the smaller allele (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). Delayed\u2010onset Friedreich's ataxia had lower scale for the assessment and rating of ataxia and spinocerebellar degeneration functional scores and longer disease duration before wheelchair confinement (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). Both GAA expansions were negatively correlated to age at disease onset (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001), but the smaller GAA expansion accounted for 62.9% of age at onset variation and the larger GAA expansion for 15.6%. In this comparative study of late\u2010onset Friedreich's ataxia and very\u2010late\u2010onset Friedreich's ataxia, no differences between these phenotypes were demonstrated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Typical\u2010 and delayed\u2010onset Friedreich's ataxia are different and Friedreich's ataxia is heterogeneous. Late\u2010onset Friedreich's ataxia and very\u2010late\u2010onset Friedreich's ataxia appear to belong to the same clinical and molecular continuum and should be considered together as \u201cdelayed\u2010onset Friedreich's ataxia.\u201d As the most frequently inherited ataxia, Friedreich's ataxia should be considered facing compatible pictures, including atypical phenotypes (spastic ataxia, retained reflexes, lack of dysarthria, and lack of extraneurological signs), delayed disease onset (even after 60 years of age), and\/or slow disease progression.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26382","type":"journal-article","created":{"date-parts":[[2015,9,21]],"date-time":"2015-09-21T07:25:35Z","timestamp":1442820335000},"page":"62-69","source":"Crossref","is-referenced-by-count":71,"title":["Delayed\u2010onset Friedreich's ataxia revisited"],"prefix":"10.1002","volume":"31","author":[{"given":"Claire","family":"Lecocq","sequence":"first","affiliation":[{"name":"D\u00e9partement de 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